F1892_HUMAN
ID F1892_HUMAN Reviewed; 450 AA.
AC Q15884; Q14CN5; Q5T6C8; Q5T6C9; Q6ZTX4; Q96N10;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Protein FAM189A2;
DE AltName: Full=Protein X123;
DE Flags: Precursor;
GN Name=FAM189A2; Synonyms=C9orf61, X123;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=7951235; DOI=10.1093/hmg/3.6.909;
RA Duclos F., Rodius F., Wrogemann K., Mandel J.-L., Koenig M.;
RT "The Friedreich ataxia region: characterization of two novel genes and
RT reduction of the critical region to 300 kb.";
RL Hum. Mol. Genet. 3:909-914(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-275, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- INTERACTION:
CC Q15884; Q9Y6I3: EPN1; NbExp=5; IntAct=EBI-8636612, EBI-713198;
CC Q15884; Q96J02-2: ITCH; NbExp=6; IntAct=EBI-8636612, EBI-6672198;
CC Q15884; O00308: WWP2; NbExp=4; IntAct=EBI-8636612, EBI-743923;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=Q15884-3; Sequence=Displayed;
CC Name=1;
CC IsoId=Q15884-1; Sequence=VSP_035737;
CC Name=2;
CC IsoId=Q15884-2; Sequence=VSP_035736, VSP_016948;
CC -!- TISSUE SPECIFICITY: Prominently expressed in muscle.
CC -!- SIMILARITY: Belongs to the FAM189 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA61301.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; L27479; AAA61301.1; ALT_INIT; mRNA.
DR EMBL; AK056152; BAB71105.1; -; mRNA.
DR EMBL; AK126127; BAC86453.1; -; mRNA.
DR EMBL; AL355140; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471089; EAW62483.1; -; Genomic_DNA.
DR EMBL; BC113683; AAI13684.1; -; mRNA.
DR EMBL; BC113685; AAI13686.1; -; mRNA.
DR CCDS; CCDS6629.1; -. [Q15884-3]
DR PIR; I68673; I68673.
DR RefSeq; NP_001121080.1; NM_001127608.2. [Q15884-3]
DR RefSeq; NP_004807.3; NM_004816.4. [Q15884-3]
DR AlphaFoldDB; Q15884; -.
DR BioGRID; 114808; 79.
DR IntAct; Q15884; 93.
DR MINT; Q15884; -.
DR STRING; 9606.ENSP00000257515; -.
DR iPTMnet; Q15884; -.
DR PhosphoSitePlus; Q15884; -.
DR BioMuta; FAM189A2; -.
DR DMDM; 215274176; -.
DR jPOST; Q15884; -.
DR MassIVE; Q15884; -.
DR PaxDb; Q15884; -.
DR PeptideAtlas; Q15884; -.
DR PRIDE; Q15884; -.
DR ProteomicsDB; 60803; -. [Q15884-3]
DR ProteomicsDB; 60804; -. [Q15884-1]
DR ProteomicsDB; 60805; -. [Q15884-2]
DR Antibodypedia; 26830; 47 antibodies from 16 providers.
DR DNASU; 9413; -.
DR Ensembl; ENST00000257515.12; ENSP00000257515.8; ENSG00000135063.20. [Q15884-3]
DR Ensembl; ENST00000455972.6; ENSP00000395675.1; ENSG00000135063.20. [Q15884-3]
DR GeneID; 9413; -.
DR KEGG; hsa:9413; -.
DR UCSC; uc004ahg.2; human. [Q15884-3]
DR CTD; 9413; -.
DR DisGeNET; 9413; -.
DR GeneCards; FAM189A2; -.
DR HGNC; HGNC:24820; FAM189A2.
DR HPA; ENSG00000135063; Tissue enhanced (skeletal muscle, thyroid gland).
DR MIM; 607710; gene.
DR neXtProt; NX_Q15884; -.
DR OpenTargets; ENSG00000135063; -.
DR PharmGKB; PA165585777; -.
DR VEuPathDB; HostDB:ENSG00000135063; -.
DR eggNOG; ENOG502QS0Q; Eukaryota.
DR GeneTree; ENSGT00530000063335; -.
DR HOGENOM; CLU_025607_2_0_1; -.
DR InParanoid; Q15884; -.
DR PhylomeDB; Q15884; -.
DR TreeFam; TF332736; -.
DR PathwayCommons; Q15884; -.
DR SignaLink; Q15884; -.
DR BioGRID-ORCS; 9413; 12 hits in 1075 CRISPR screens.
DR ChiTaRS; FAM189A2; human.
DR GenomeRNAi; 9413; -.
DR Pharos; Q15884; Tdark.
DR PRO; PR:Q15884; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q15884; protein.
DR Bgee; ENSG00000135063; Expressed in left lobe of thyroid gland and 159 other tissues.
DR ExpressionAtlas; Q15884; baseline and differential.
DR Genevisible; Q15884; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR030431; FAM189.
DR PANTHER; PTHR17615; PTHR17615; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Phosphoprotein; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..450
FT /note="Protein FAM189A2"
FT /id="PRO_0000089698"
FT TRANSMEM 86..106
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 235..284
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 235..258
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 275
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT VAR_SEQ 1..211
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:7951235"
FT /id="VSP_035736"
FT VAR_SEQ 1..161
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035737"
FT VAR_SEQ 212..285
FT /note="FQMSEGSEAAVIPLDLGCTQVTQDGDIPNIPAEENASTSTPSSTLVRPIRSR
FT RALPPLRTRSKSDPVLHPSEER -> MTCFGPYPIGTGLQGITLCYSCFPSFCKMKSRM
FT CMAISICQMLSMLSFVVCAFRYRHMFKRGWPMGTCCLFLPT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:7951235"
FT /id="VSP_016948"
FT VARIANT 233
FT /note="T -> I (in dbSNP:rs35386391)"
FT /id="VAR_047364"
FT VARIANT 261
FT /note="R -> K (in dbSNP:rs11138396)"
FT /id="VAR_050823"
FT CONFLICT 230
FT /note="T -> I (in Ref. 2; BAB71105)"
FT /evidence="ECO:0000305"
FT CONFLICT 328
FT /note="Y -> D (in Ref. 1; AAA61301)"
FT /evidence="ECO:0000305"
FT CONFLICT 397
FT /note="K -> R (in Ref. 2; BAC86453)"
FT /evidence="ECO:0000305"
FT CONFLICT 400
FT /note="S -> L (in Ref. 1; AAA61301)"
FT /evidence="ECO:0000305"
FT CONFLICT 418
FT /note="F -> I (in Ref. 1; AAA61301)"
FT /evidence="ECO:0000305"
FT CONFLICT 438
FT /note="P -> S (in Ref. 1; AAA61301)"
FT /evidence="ECO:0000305"
FT CONFLICT Q15884-2:19
FT /note="C -> CYS (in Ref. 1; AAA61301)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 450 AA; 49703 MW; 6D4066780A6F3EF6 CRC64;
MILLVNLFVL LSVVCVLLNL AGFILGCQGA QFVSSVPRCD LVDLGEGKIC FCCEEFQPAK
CTDKENALKL FPVQPCSAVH LLLKKVLFAL CALNALTTTV CLVAAALRYL QIFATRRSCI
DESQISAEEA EDHGRIPDPD DFVPPVPPPS YFATFYSCTP RMNRRMVGPD VIPLPHIYGA
RIKGVEVFCP LDPPPPYEAV VSQMDQEQGS SFQMSEGSEA AVIPLDLGCT QVTQDGDIPN
IPAEENASTS TPSSTLVRPI RSRRALPPLR TRSKSDPVLH PSEERAAPVL SCEAATQTER
RLDLAAVTLR RGLRSRASRC RPRSLIDYKS YMDTKLLVAR FLEQSSCTMT PDIHELVENI
KSVLKSDEEH MEEAITSASF LEQIMAPLQP STSRAHKLPS RRQPGLLHLQ SCGDLHTFTP
AGRPRAERRP RRVEAERPHS LIGVIRETVL
